A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638941



Internal ID6679038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70029485..70054508hg38UCSC Ensembl
chr16:70063388..70088411hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3825024
hg1925024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15503870, essv15503861, essv15503864, essv15503865, essv15503873, essv15503863, essv15503868, essv15503869, essv15503862, essv15503871, essv15503872, essv15503866, essv15503867
SamplesHG01513, HG01941, HG02471, NA19037, HG03736, HG03021, HG01066, HG00325, NA19794, NA19719, HG02445, HG00324, HG00381
Known GenesMIR1972-1, MIR1972-2, PDXDC2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638941
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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